Blood for PRNP Gene | Pathology | School of Medicine

PRNP Genetic Testing (Blood)
CPT Code	81404
Ordering Recommendation	This genetic test can aid in diagnosing genetic prion disease.
Methodology	Polymerase Chain Reaction (PCR) amplification and bi-directional sequence analysis of the PRNP gene exon 2.
Available STAT	No.
Analytic Timeⁱ	30 business days.
Submit With Order	NPDPSC Test Request Form ("Social & Family History" must be filled out)ⁱⁱ. Please submit the Testing & Reporting Policies form (page 4) completed with the order.

Specimen Requirements
Patient Preparation	Patients under 18 years of age will require documentation of medical necessity, and testing will be approved by NPDPSC Director.
Specimen Type	Peripheral Whole Blood.
Preferred Container	Ethylenediaminetetraacetic acid (EDTA).
Specimen Preparation	Two purple-top tube (EDTA), 5ml each.
Storage/Transport	Store blood at room temperature until shipped. Tubes should be shipped at room temperature using protective bubble wrap or Styrofoam (preferably on blood collection date). Please note: Shipments are not received on weekends and/or holidays. Ship only Monday through Thursday (priority overnight).
Unacceptable Conditions	Frozen, clotted, wrong anticoagulant or insufficient sample quantity.
Remarks	Complete the required test request forms linked above. Must include both the NPDPSC Test Request Form with the "Social & Family History" section completed, as well as the Testing & Reporting Policies Form for genetic testing to be completed.
Stability	Room temperature at 15-30°C: stable up to three days. Refrigerated at 2-8°C: stable up to seven days.

Specimen Reporting
Reference Range	None.
Critical Results	None.
PRNP Gene Sequencing	Polymorphism: 129 M/M, M/V or V/V. Pathogenic (mutation): None or Mutation Type. Other mutations/polymorphisms: None or Silent Mutation Findings.

References

i. Expected turnaround-time (business days) for results, beginning when the center receives the specimen.
ii. Effective 08/01/2011, if blood is submitted for Genetic Sequencing on a patient without confirmed family history of genetic CJD. The referring institution or patient will be charged for testing. The basic cost for testing is $274.83.